MC2R

OMIMHGNC

Synonym(s): ACTHR

Locus: 18p11.2

Protein: Adrenocorticotropic hormone receptor

 

Disorders

Tests

Test Type
Molecular (10)
Multi-Gene Panel (2)
Multi-Method Panel (4)
Test Method
Del/Dup (CNV) (3)
Sequencing, Capillary (Sanger) (8)
Sequencing, Next Gen (3)
Prenatal/Carrier
Prenatal (4)
Carrier (5)
Lab Location
USA(4)
Spain(1)
Portugal(1)
Czech Republic(1)
Turkey(1)
Germany(1)
Finland(1)
 
ACTH Deficiency (MC2R) Test
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Glucocorticoid Deficiency 1 (MC2R) Sequencing Test
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Glucocorticoid Deficiency 1 Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague 2, Czech Republic
Glucocorticoid Deficiency 1 Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Familial Glucocorticoid Deficiency (FGD) Syndrome Type 1, Sequencing MC2R Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Glucocorticoid deficiency type 1 (sequence analysis of MC2R gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-5 Weeks
price: contact lab
MC2R
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: ~2 weeks
price: contact lab
Glucocorticoid deficiency type 1
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: contact lab
Glucocorticoid Deficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Glucocorticoid Deficiency Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA